ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.3G>C (p.Met1Ile)

dbSNP: rs769053886
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228895 SCV001401321 uncertain significance Fanconi anemia complementation group O 2022-07-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 956146). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the RAD51C mRNA. The next in-frame methionine is located at codon 10.
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV004690022 SCV005184346 uncertain significance Hereditary breast ovarian cancer syndrome 2024-05-03 criteria provided, single submitter curation According to the ACMG SVI adaptation criteria we chose these criteria: PM2 (supporting pathogenic): absent from gnomAD, BS3 (strong benign): alternative start codon at M10 variants in the first methionine are homologous recombination proficient https://www.sciencedirect.com/science/article/pii/S156878642400020X?via%3Dihub

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